Canonical Allele Identifier: CA2838201309

Gene: GCSAML

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.247563669_247563679del , CM000663.2:g.247563669_247563679del	GRCh38
NC_000001.10:g.247726971_247726981del , CM000663.1:g.247726971_247726981del	GRCh37
NC_000001.9:g.245793594_245793604del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366488.5:c.139+30_139+40del MANE Select	ENSP00000355444.4:n.139+30_139+40del
ENST00000366488.4:c.139+30_139+40del	ENSP00000355444.4:n.139+30_139+40del
ENST00000366489.5:c.79+30_79+40del	ENSP00000355445.1:n.79+30_79+40del
ENST00000366491.6:c.79+30_79+40del	ENSP00000355447.2:n.79+30_79+40del
ENST00000463359.5:c.43+30_43+40del	ENSP00000434526.1:n.43+30_43+40del
ENST00000526896.5:c.139+30_139+40del	ENSP00000436079.1:n.139+30_139+40del
ENST00000527084.5:c.43+30_43+40del	ENSP00000432118.1:n.43+30_43+40del
ENST00000527541.5:c.43+30_43+40del	ENSP00000435110.1:n.43+30_43+40del
ENST00000529512.5:c.43+30_43+40del	ENSP00000434084.1:n.43+30_43+40del
ENST00000536561.5:c.139+30_139+40del	ENSP00000446460.2:n.139+30_139+40del
ENST00000623578.3:c.43+30_43+40del	ENSP00000485175.1:n.43+30_43+40del
NM_001281834.1:c.79+30_79+40del	NP_001268763.1:n.79+30_79+40del
NM_001281835.1:c.79+30_79+40del	NP_001268764.1:n.79+30_79+40del
NM_001281836.1:c.43+30_43+40del	NP_001268765.1:n.43+30_43+40del
NM_001281837.1:c.43+30_43+40del	NP_001268766.1:n.43+30_43+40del
NM_001281838.1:c.43+30_43+40del	NP_001268767.1:n.43+30_43+40del
NM_001281853.1:c.139+30_139+40del	NP_001268782.1:n.139+30_139+40del
NM_145278.4:c.139+30_139+40del	NP_660321.1:n.139+30_139+40del
XM_011544098.1:c.*39+30_*39+40del	XP_011542400.1:n.*39+30_*39+40del
XM_011544099.1:c.139+30_139+40del	XP_011542401.1:n.139+30_139+40del
XM_011544100.1:c.*39+30_*39+40del	XP_011542402.1:n.*39+30_*39+40del
XM_024453417.1:c.79+30_79+40del	XP_024309185.1:n.79+30_79+40del
NM_145278.5:c.139+30_139+40del MANE Select	NP_660321.1:n.139+30_139+40del
NM_001281834.2:c.79+30_79+40del	NP_001268763.1:n.79+30_79+40del
NM_001281835.2:c.79+30_79+40del	NP_001268764.1:n.79+30_79+40del
NM_001281836.2:c.43+30_43+40del	NP_001268765.1:n.43+30_43+40del
NM_001281838.2:c.43+30_43+40del	NP_001268767.1:n.43+30_43+40del